Incidental Mutation 'IGL01125:Phf20'
ID |
50579 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Phf20
|
Ensembl Gene |
ENSMUSG00000038116 |
Gene Name |
PHD finger protein 20 |
Synonyms |
6820402O20Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.909)
|
Stock # |
IGL01125
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
156038567-156151873 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 156145104 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043138
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037401]
|
AlphaFold |
Q8BLG0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000037401
|
SMART Domains |
Protein: ENSMUSP00000043138 Gene: ENSMUSG00000038116
Domain | Start | End | E-Value | Type |
TUDOR
|
11 |
71 |
5.27e0 |
SMART |
TUDOR
|
85 |
141 |
7.13e-4 |
SMART |
AT_hook
|
257 |
269 |
1.65e0 |
SMART |
low complexity region
|
323 |
332 |
N/A |
INTRINSIC |
ZnF_C2H2
|
455 |
480 |
1.86e0 |
SMART |
low complexity region
|
486 |
493 |
N/A |
INTRINSIC |
low complexity region
|
526 |
555 |
N/A |
INTRINSIC |
low complexity region
|
612 |
630 |
N/A |
INTRINSIC |
PHD
|
657 |
701 |
2.83e-4 |
SMART |
coiled coil region
|
945 |
966 |
N/A |
INTRINSIC |
low complexity region
|
974 |
987 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122814
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132352
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147242
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152617
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased body size and total body fat amount, and abnormal skeletal and hematopoietic development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg2 |
C |
T |
X: 159,275,704 (GRCm39) |
T931I |
probably damaging |
Het |
Atp5mc3 |
A |
G |
2: 73,741,293 (GRCm39) |
|
probably benign |
Het |
Btd |
T |
A |
14: 31,389,733 (GRCm39) |
F485I |
probably benign |
Het |
Camk2d |
A |
G |
3: 126,591,934 (GRCm39) |
|
probably benign |
Het |
Cd300lg |
A |
T |
11: 101,945,047 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
A |
G |
1: 24,263,726 (GRCm39) |
|
probably null |
Het |
Cybb |
T |
A |
X: 9,312,983 (GRCm39) |
N367I |
possibly damaging |
Het |
Dcaf17 |
T |
C |
2: 70,920,149 (GRCm39) |
V479A |
probably benign |
Het |
Dscaml1 |
G |
T |
9: 45,660,930 (GRCm39) |
|
probably null |
Het |
Espl1 |
T |
C |
15: 102,231,373 (GRCm39) |
F51S |
probably damaging |
Het |
Gsdmc3 |
T |
A |
15: 63,733,306 (GRCm39) |
D258V |
probably benign |
Het |
Gvin-ps3 |
A |
T |
7: 105,682,021 (GRCm39) |
N411K |
unknown |
Het |
Ifngr1 |
C |
T |
10: 19,473,161 (GRCm39) |
|
probably benign |
Het |
Kcnip1 |
A |
T |
11: 33,583,202 (GRCm39) |
D194E |
probably damaging |
Het |
Lrrtm1 |
C |
T |
6: 77,221,436 (GRCm39) |
R298C |
probably damaging |
Het |
Map3k4 |
G |
A |
17: 12,490,849 (GRCm39) |
S194L |
probably damaging |
Het |
Mmp16 |
A |
G |
4: 18,112,066 (GRCm39) |
K481E |
possibly damaging |
Het |
Myh1 |
A |
T |
11: 67,111,486 (GRCm39) |
M1642L |
probably benign |
Het |
Nol9 |
G |
T |
4: 152,131,066 (GRCm39) |
C363F |
probably damaging |
Het |
Nsd1 |
T |
C |
13: 55,393,430 (GRCm39) |
S344P |
probably damaging |
Het |
Or52e5 |
A |
T |
7: 104,718,808 (GRCm39) |
I45F |
probably benign |
Het |
Ppp3cc |
G |
T |
14: 70,455,701 (GRCm39) |
H467Q |
probably damaging |
Het |
Rab28 |
A |
G |
5: 41,793,237 (GRCm39) |
M136T |
probably benign |
Het |
Rag1 |
A |
G |
2: 101,472,346 (GRCm39) |
I932T |
probably damaging |
Het |
Sez6 |
T |
C |
11: 77,868,115 (GRCm39) |
|
probably benign |
Het |
Slc49a3 |
A |
G |
5: 108,592,458 (GRCm39) |
|
probably benign |
Het |
Sorcs1 |
T |
C |
19: 50,216,639 (GRCm39) |
T647A |
probably damaging |
Het |
Sspo |
T |
A |
6: 48,469,822 (GRCm39) |
C4507S |
probably damaging |
Het |
Traf3ip3 |
T |
C |
1: 192,866,772 (GRCm39) |
|
probably null |
Het |
Vmn2r121 |
T |
A |
X: 123,042,504 (GRCm39) |
I218F |
probably damaging |
Het |
Vmn2r61 |
A |
G |
7: 41,909,550 (GRCm39) |
Y25C |
probably damaging |
Het |
|
Other mutations in Phf20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00928:Phf20
|
APN |
2 |
156,146,736 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01071:Phf20
|
APN |
2 |
156,136,008 (GRCm39) |
splice site |
probably null |
|
IGL01608:Phf20
|
APN |
2 |
156,118,516 (GRCm39) |
missense |
probably benign |
|
IGL01610:Phf20
|
APN |
2 |
156,144,809 (GRCm39) |
nonsense |
probably null |
|
IGL01845:Phf20
|
APN |
2 |
156,118,577 (GRCm39) |
nonsense |
probably null |
|
IGL02364:Phf20
|
APN |
2 |
156,136,017 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02692:Phf20
|
APN |
2 |
156,140,498 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03039:Phf20
|
APN |
2 |
156,140,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R0016:Phf20
|
UTSW |
2 |
156,109,114 (GRCm39) |
nonsense |
probably null |
|
R0189:Phf20
|
UTSW |
2 |
156,145,061 (GRCm39) |
missense |
probably benign |
0.02 |
R1532:Phf20
|
UTSW |
2 |
156,144,969 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1572:Phf20
|
UTSW |
2 |
156,129,754 (GRCm39) |
missense |
probably benign |
0.17 |
R2007:Phf20
|
UTSW |
2 |
156,129,874 (GRCm39) |
missense |
probably benign |
0.00 |
R2191:Phf20
|
UTSW |
2 |
156,118,574 (GRCm39) |
missense |
probably benign |
|
R3011:Phf20
|
UTSW |
2 |
156,129,946 (GRCm39) |
missense |
probably benign |
0.32 |
R3024:Phf20
|
UTSW |
2 |
156,129,787 (GRCm39) |
missense |
probably damaging |
0.96 |
R4242:Phf20
|
UTSW |
2 |
156,149,374 (GRCm39) |
unclassified |
probably benign |
|
R5053:Phf20
|
UTSW |
2 |
156,115,782 (GRCm39) |
missense |
probably benign |
0.00 |
R5089:Phf20
|
UTSW |
2 |
156,144,782 (GRCm39) |
missense |
probably benign |
|
R5382:Phf20
|
UTSW |
2 |
156,109,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R5649:Phf20
|
UTSW |
2 |
156,093,688 (GRCm39) |
splice site |
probably null |
|
R5707:Phf20
|
UTSW |
2 |
156,138,691 (GRCm39) |
splice site |
probably null |
|
R5751:Phf20
|
UTSW |
2 |
156,109,261 (GRCm39) |
missense |
probably benign |
0.01 |
R5805:Phf20
|
UTSW |
2 |
156,149,214 (GRCm39) |
missense |
probably damaging |
0.99 |
R5988:Phf20
|
UTSW |
2 |
156,149,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R6179:Phf20
|
UTSW |
2 |
156,140,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R6243:Phf20
|
UTSW |
2 |
156,065,320 (GRCm39) |
missense |
probably benign |
0.16 |
R6338:Phf20
|
UTSW |
2 |
156,115,606 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6351:Phf20
|
UTSW |
2 |
156,136,130 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6584:Phf20
|
UTSW |
2 |
156,136,043 (GRCm39) |
missense |
probably damaging |
0.99 |
R7248:Phf20
|
UTSW |
2 |
156,135,331 (GRCm39) |
splice site |
probably null |
|
R7329:Phf20
|
UTSW |
2 |
156,146,552 (GRCm39) |
missense |
probably damaging |
0.96 |
R7387:Phf20
|
UTSW |
2 |
156,136,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R7528:Phf20
|
UTSW |
2 |
156,144,928 (GRCm39) |
nonsense |
probably null |
|
R7603:Phf20
|
UTSW |
2 |
156,144,771 (GRCm39) |
missense |
probably benign |
|
R7698:Phf20
|
UTSW |
2 |
156,136,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R7916:Phf20
|
UTSW |
2 |
156,129,858 (GRCm39) |
missense |
probably damaging |
0.96 |
R7968:Phf20
|
UTSW |
2 |
156,135,464 (GRCm39) |
missense |
probably benign |
0.00 |
R8415:Phf20
|
UTSW |
2 |
156,129,913 (GRCm39) |
missense |
probably benign |
0.07 |
R8843:Phf20
|
UTSW |
2 |
156,144,843 (GRCm39) |
missense |
probably benign |
|
R8849:Phf20
|
UTSW |
2 |
156,118,440 (GRCm39) |
missense |
probably damaging |
0.97 |
R9168:Phf20
|
UTSW |
2 |
156,109,234 (GRCm39) |
missense |
probably benign |
0.01 |
R9180:Phf20
|
UTSW |
2 |
156,114,537 (GRCm39) |
missense |
probably benign |
0.31 |
R9286:Phf20
|
UTSW |
2 |
156,134,470 (GRCm39) |
missense |
probably damaging |
0.98 |
R9297:Phf20
|
UTSW |
2 |
156,115,690 (GRCm39) |
missense |
probably benign |
|
R9318:Phf20
|
UTSW |
2 |
156,115,690 (GRCm39) |
missense |
probably benign |
|
R9414:Phf20
|
UTSW |
2 |
156,136,167 (GRCm39) |
missense |
probably benign |
0.38 |
RF011:Phf20
|
UTSW |
2 |
156,146,541 (GRCm39) |
critical splice acceptor site |
probably benign |
|
RF011:Phf20
|
UTSW |
2 |
156,146,540 (GRCm39) |
critical splice acceptor site |
probably benign |
|
RF028:Phf20
|
UTSW |
2 |
156,146,543 (GRCm39) |
critical splice acceptor site |
probably benign |
|
Z1190:Phf20
|
UTSW |
2 |
156,129,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-06-21 |